UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3727470_3727786delinsAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA | CA2202928149 | CREBBP | c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2421=]) c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2383=]) c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2406=]) c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2282=]) c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2334=]) c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2403=]) c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2170=]) c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2419=]) | |
| 16 | g.3727471_3727786delinsG | CA658798522 | CREBBP | c.7261_*247delinsC (n.[c.7261_*247delinsC;Ser2421LeufsTer26]) c.7147_*247delinsC (n.[c.7147_*247delinsC;Ser2383LeufsTer26]) c.7216_*247delinsC (n.[c.7216_*247delinsC;Ser2406LeufsTer26]) c.6844_*247delinsC (n.[c.6844_*247delinsC;Ser2282LeufsTer26]) c.7000_*247delinsC (n.[c.7000_*247delinsC;Ser2334LeufsTer26]) c.7207_*247delinsC (n.[c.7207_*247delinsC;Ser2403LeufsTer26]) c.6508_*247delinsC (n.[c.6508_*247delinsC;Ser2170LeufsTer26]) c.7255_*247delinsC (n.[c.7255_*247delinsC;Ser2419LeufsTer26]) | ClinVar dbSNP |
| 16 | g.3727654T>C | CA276970881 | CREBBP | c.*64A>G (n.*64A>G) | dbSNP gnomAD v4 |
| 16 | g.3727654T= | CA2202928269 | CREBBP | c.*64A= (n.*64A=) | |
| 16 | g.3727655G>A | CA620714422 | CREBBP | c.*63C>T (n.*63C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727655G= | CA2202928270 | CREBBP | c.*63C= (n.*63C=) | |
| 16 | g.3727656C>A | CA2631401140 | CREBBP | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 16 | g.3727658T>C | CA973914939 | CREBBP | c.*60A>G (n.*60A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727658T= | CA2202928271 | CREBBP | c.*60A= (n.*60A=) | |
| 16 | g.3727659G>A | CA2575893793 | CREBBP | c.*59C>T (n.*59C>T) | gnomAD v4 |
| 16 | g.3727660G>A | CA620714423 | CREBBP | c.*58C>T (n.*58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727660G>C | CA2631401143 | CREBBP | c.*58C>G (n.*58C>G) | gnomAD v4 |
| 16 | g.3727660G= | CA2202928272 | CREBBP | c.*58C= (n.*58C=) | |
| 16 | g.3727660G>T | CA2631401144 | CREBBP | c.*58C>A (n.*58C>A) | gnomAD v4 |
| 16 | g.3727661A>C | CA2575893794 | CREBBP | c.*57T>G (n.*57T>G) | |
| 16 | g.3727665dup | CA2631401146 | CREBBP | c.*56dup (n.*56dup) | gnomAD v4 |
| 16 | g.3727665del | CA2575893795 | CREBBP | c.*56del (n.*56del) | |
| 16 | g.3727663T>C | CA2631401147 | CREBBP | c.*55A>G (n.*55A>G) | gnomAD v4 |
| 16 | g.3727666C>T | CA2631401149 | CREBBP | c.*52G>A (n.*52G>A) | gnomAD v4 |
| 16 | g.3727668_3727672del | CA2631401148 | CREBBP | c.*48_*52del (n.*48_*52del) | gnomAD v4 |
| 16 | g.3727667A= | CA2202928273 | CREBBP | c.*51T= (n.*51T=) | |
| 16 | g.3727667A>C | CA7868894 | CREBBP | c.*51T>G (n.*51T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727667A>G | CA620714424 | CREBBP | c.*51T>C (n.*51T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727667A>T | CA2731579087 | CREBBP | c.*51T>A (n.*51T>A) | dbSNP |
| 16 | g.3727668G>A | CA2731835530 | CREBBP | c.*50C>T (n.*50C>T) | dbSNP |
| 16 | g.3727668G>C | CA2731835589 | CREBBP | c.*50C>G (n.*50C>G) | dbSNP |
| 16 | g.3727669del | CA2631401152 | CREBBP | c.*49del (n.*49del) | gnomAD v4 |
| 16 | g.3727669T>A | CA2731835650 | CREBBP | c.*49A>T (n.*49A>T) | dbSNP |
| 16 | g.3727669T>G | CA2731835593 | CREBBP | c.*49A>C (n.*49A>C) | dbSNP |
| 16 | g.3727670A= | CA2202928274 | CREBBP | c.*48T= (n.*48T=) | |
| 16 | g.3727670A>C | CA7868895 | CREBBP | c.*48T>G (n.*48T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727670A>T | CA2731577406 | CREBBP | c.*48T>A (n.*48T>A) | dbSNP |
| 16 | g.3727671C= | CA2202928275 | CREBBP | c.*47G= (n.*47G=) | |
| 16 | g.3727671C>G | CA2631401153 | CREBBP | c.*47G>C (n.*47G>C) | gnomAD v4 |
| 16 | g.3727671C>T | CA2202928276 | CREBBP | c.*47G>A (n.*47G>A) | dbSNP |
| 16 | g.3727672A>G | CA2575893796 | CREBBP | c.*46T>C (n.*46T>C) | gnomAD v4 |
| 16 | g.3727673A>G | CA2631401155 | CREBBP | c.*45T>C (n.*45T>C) | gnomAD v4 |
| 16 | g.3727673A>T | CA2731835651 | CREBBP | c.*45T>A (n.*45T>A) | dbSNP |
| 16 | g.3727674A= | CA2202928277 | CREBBP | c.*44T= (n.*44T=) | |
| 16 | g.3727674A>G | CA620714425 | CREBBP | c.*44T>C (n.*44T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727674A>T | CA2731600435 | CREBBP | c.*44T>A (n.*44T>A) | dbSNP |
| 16 | g.3727675A= | CA2202928278 | CREBBP | c.*43T= (n.*43T=) | |
| 16 | g.3727675A>C | CA276970887 | CREBBP | c.*43T>G (n.*43T>G) | dbSNP gnomAD v4 |
| 16 | g.3727675A>G | CA2731583399 | CREBBP | c.*43T>C (n.*43T>C) | dbSNP |
| 16 | g.3727675A>T | CA2731583400 | CREBBP | c.*43T>A (n.*43T>A) | dbSNP |
| 16 | g.3727676G>A | CA276970888 | CREBBP | c.*42C>T (n.*42C>T) | dbSNP |
| 16 | g.3727676G>C | CA7868896 | CREBBP | c.*42C>G (n.*42C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727676G= | CA2202928279 | CREBBP | c.*42C= (n.*42C=) | |
| 16 | g.3727676G>T | CA2731577950 | CREBBP | c.*42C>A (n.*42C>A) | dbSNP |
| 16 | g.3727677G>A | CA7868897 | CREBBP | c.*41C>T (n.*41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |